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Amyotrophic lateral sclerosis

Amyotrophic lateral sclerosis REVIEW URRENT PINION Albert C. Ludolph, Johannes Brettschneider, and Jochen H. Weishaupt Purpose of review The field of amyotrophic lateral sclerosis (ALS) has seen a number of remarkable advances during recent years that will be summarized in this review. Recent findings In particular, the progress in the molecular neuropathology with the discovery of pathogenic mutations in TAR DNA binding protein (TARDBP), fused in sarcoma (FUS), ubiquilin2 (UBQLN2) and most recently C9ORF72 (abbreviation for the open reading frame 72 on chromosome 9) has further substantiated the – clinically temporarily forgotten – relation of classic ALS to frontotemporal degeneration (FTD). Also, major progress has been made by the discovery of genes relevant for the disease, and pathogenetic concepts have been suggested which imply that not one, but multiple genetic and cell biological hits are involved in the causation of the disease. Progress in interventional therapies has remained poor; important recent examples are the failure of the interventional lithium and pioglitazone trials. However, a study of a third interventional compound – dexpramipexol – raises substantial hopes that the class of chemicals originally represented by riluzole – benzothiazoles – may provide additional therapeutic progress for ALS patients. Summary Tremendous progress has been made http://www.deepdyve.com/assets/images/DeepDyve-Logo-lg.png Current Opinion in Neurology Wolters Kluwer Health

Amyotrophic lateral sclerosis

Current Opinion in Neurology , Volume 25 (5) – Oct 1, 2012

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Copyright
Copyright © Lippincott Williams & Wilkins. Unauthorized reproduction of this article is prohibited.
ISSN
1350-7540
eISSN
1473-6551
DOI
10.1097/WCO.0b013e328356d328
pmid
22918486
Publisher site
See Article on Publisher Site

Abstract

REVIEW URRENT PINION Albert C. Ludolph, Johannes Brettschneider, and Jochen H. Weishaupt Purpose of review The field of amyotrophic lateral sclerosis (ALS) has seen a number of remarkable advances during recent years that will be summarized in this review. Recent findings In particular, the progress in the molecular neuropathology with the discovery of pathogenic mutations in TAR DNA binding protein (TARDBP), fused in sarcoma (FUS), ubiquilin2 (UBQLN2) and most recently C9ORF72 (abbreviation for the open reading frame 72 on chromosome 9) has further substantiated the – clinically temporarily forgotten – relation of classic ALS to frontotemporal degeneration (FTD). Also, major progress has been made by the discovery of genes relevant for the disease, and pathogenetic concepts have been suggested which imply that not one, but multiple genetic and cell biological hits are involved in the causation of the disease. Progress in interventional therapies has remained poor; important recent examples are the failure of the interventional lithium and pioglitazone trials. However, a study of a third interventional compound – dexpramipexol – raises substantial hopes that the class of chemicals originally represented by riluzole – benzothiazoles – may provide additional therapeutic progress for ALS patients. Summary Tremendous progress has been made

Journal

Current Opinion in NeurologyWolters Kluwer Health

Published: Oct 1, 2012

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